Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.V439fs
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HTRA2

NM_013247.5:p.V439fs

Associated Papers

HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients.

Kovacs-Nagy R et al.

Neuropediatrics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."